Friedreich's Ataxia - Clinical

nb. italics are used to explain or expand clinical descriptionThis is a clinical
description, which I have edited, and reformatted. I have added the Italic notes, and
the footnote. Friedreich's Ataxia encompasses variations due to individual responses to
the key disease effects. These effects are noted below and are common to all sufferers, although the intensities and chronology is widely variable,

age of onset: usually prior to 10 years of age (but as late as 16 years)

risk factors: familial - autosomal recessive

chrom.#: 9q13-q21.1

gene: frataxin

clinical features similar in members of same family by chronology of symptoms but not necessarily by rate of progression
heterozygotes are phenotypically normal this is a fancy way of saying the gene behaves in a typical single gene recessive
manner, ie. 1 in 4 offspring of carriers etc.

PATHOGENESIS:nb. read '->' as 'leading to..'
genetic defect -> impaired expression of frataxin -> accumulation of iron within the
mitochondria of affected cells -> production of free radicals within the affected cells
-> cell death -> phenotypic expression in the nervous system (CNS and peripheral nerves), cardiac tissue and pancreas

phenotypic indicates that the effect is identical between sufferers at least at cell
level, although the effects at individual level are often quite diverse

ocular dysmetria - the doctor moves a finger before the subject eyes and
observes the eye movement. Dysmetria is overshooting, misdirection, and wobbling
of gaze direction, causing Nystagmus, double vision, and wandering focus. (and
all BEFORE you hit the scotch!)

positive Romberg test - while still able to stand, get subject to stand,
legs together, then close eyes. the positive result refers to sight balance
remaining whilst ear balance has failed. ie. closey eyes, fally over.

Reflexes absent - deep tendon reflexes - extensor plantar reflexnote here that since a gene test has been in use, some people with hyper
reflexes have been re-classified as FARR Friedreich's ataxia with retained
reflexes. Hyper reflexes also occur in many SCAs (spinocerebellar ataxias)

Sensation

loss of vibration and position sense

impaired light touch and pain sensation - variable between none and hyper on
same subject, ie. most of us suffer cuts unnoticed, but can't tolerate a lentil in
a shoe. I ripped a toenail off, and did not notice

systolic ejection murmur - you need a doctor with a stethoscope for this one
(or a nurse with black stockings!)

SOBOE, palpitations, chest pain (angina), arrhythmias, congestive heart failure,
deathSOBOE = Shortness Of Breath On Exertion.
Congestive heart failure and Sudden Cardiac death are the major cause of death in FA.
The usually quoted average life span is 37 with most deaths in the teens and early
twenties who account for around half FA deaths

Musculoskeletal Manifestations

hammer toes

pes cavus (high-arched feet)

progressive kyphoscoliosis - hunch back which can affect breathing my speculation is that all of these, and the cardiomyopathy are the result of
inability to relax muscles, which shorten, and cause bad heart function, walking
on toes (heels off ground) curled fingers etc.
Please comment on this hypothesis

The above is a definitive overview of FA and includes both early and late symptoms,
most of which an FAer will suffer sooner or later. Personally I don't yet have diabetes,
nor kyphoscoliosis. Also my eyesight is fine, but my arms are getting too short to read
a book! Most of the rest I have to some degree. I have used a wheelchair since about
1985 and indoors since 1991 about when I stopped driving. My last nine years driving
was with hand controls. I could not carry a cup of drink unspilt from 1970 diagnosed
1978 at first visit to 'neuro' (a very rare result apparently!) But still had the tests
to confirm. It is an easy diagnosis, but very few doctors are aware of it. There is a
gene test now, but the symptoms above are easily checked and the seven Neurological
symptoms define it distinctly, although they may not all appear at first, but are usually
present before 16 years of age. The lack of reflexes tends to be our first symptom.
(except those with FARR)

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